A Rare Case of a Male Infant with Down-Turner Syndrome and Review of Cases
- Author:
Salwati S
1
Author Information
1. Department of Pathology and 2 Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia Medical Centre, Jalan Yaacob Latif, Bandar Tun Razak, 56000 Cheras, Kuala Lumpur, Malaysia.
- Collective Name:SALWATI S; BADOR KM; WAN NOOR AIDA MI; SITI FAIRUZ AR
- Publication Type:Journal Article
- Keywords:
chromosome abnormality;
Down-Turner syndrome;
double aneuploidy;
fluorescence in situ hybridization
- From:Medicine and Health
2019;14(1):234-243
- CountryMalaysia
- Language:English
-
Abstract:
Individuals with double aneuploidy of Down-Turner syndrome are very rare and
to date, fewer than 50 cases have been reported, worlwide. We report a case
of a male infant who presented with dysmorphic features of upslanting eyes, flat
nasal bridge, wide spaced nipples and macroglossia. Based on the clinical features,
he was diagnosed with Down syndrome. His peripheral blood sample was taken
and sent for cytogenetic analysis for confirmation. Chromosome analysis of his
lymphocyte cell culture revealed a mosaic pattern of double aneuploidy with
monosomy X identified in 31 metaphases and trisomy 21 in 14 metaphases:
(45,X[31]/47,XY,+21[14]). Further analysis with fluorescence in situ hybridization
(FISH) using Vysis LSI SRY Spectrum Orange/CEP X Spectrum Green Probe and
Vysis CEP Y Spectrum Aqua Probe and Vysis LSI 21 Spectrum Orange Probe
performed on the cells (nuclei and metaphases) has confirmed the presence
of the abnormal two cell lines (81% monosomy X and 19% trisomy 21) in the
patient. Ultrasound investigations of his pelvic region showed normal testes and no
evidence of uterus, ovary or vagina. To the best of our knowledge, this is the first
Down-Turner syndrome reported in Malaysia. In conclusion, this case demonstrates
the importance of Giemsa-banded karyotype and FISH analyses as diagnostic
tools in identifying the chromosomal abnormality and determining the ratio of the
normal:abnormal cells present in the patient. An annotated bibliography of earlier
reported cases of Down-Turner with documented karyotyping is also included in
this report.
- Full text:12.2019my0103.pdf
